X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. The disease is Orphanet rare-disease nomenclature id Orphanet_35173 (X-linked dominant chondrodysplasia punctata). Also known as: CDPX2, CDPXD, CPXD, Chondrodystrophia calcificans congenita, Conradi-Hünermann-Happle syndrome, X-linked chondrodysplasia punctata type 2.